| Gene Symbol | C9ORF72 |
| Aliases | C9ORF72PROTEIN |
| Chromosome | chromosome 9p21.2. |
| Protein Type | Protein |
| Function | is a 481-amino acid protein with an approximate molecular weight of 54 kDa. |
| Primary Expression | Normal and Neoplastic cells) domain family, functioning as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in endolysosomal traffi |
| Subcellular Localization | ** | Cytoplasm; associated with endosomes, lysosomes, and autophagosomes | |
| Molecular Weight | 54 kDa |
| Pathways | Apoptosis, Autophagy, Er Stress, LYSOSOMES, Microbiota |
| UniProt ID | Search UniProt |
| GeneCards | C9ORF72 |
| Human Protein Atlas | C9ORF72 |
| Phosphorylation | Multiple serine/threonine sites are phosphorylated in vivo, potentially regulating complex formation and GEF activity. |
| Ubiquitination | C9orf72 can be ubiquitinated, targeting it for proteasomal degradation or altering its interaction network. |
| Sumoylation | Sumoylation has been reported and may influence subcellular localization. |
| Associated Diseases | Aging, Als, ALS/FTD, Alzheimer, Alzheimer's Disease |
| Known Drugs/Compounds | Antisense oligonucleotides, BIIB078 |
| Interactions | ACTB, Actin, AKT, ALS, ALS2, ALS-CAUSING MUTATIONS |
| SciDEX Hypotheses | Axonal Transport Defect: C9orf72 hexanucleotide ex |
| KG Connections | 1445 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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